Table 4. Mutation type and phenotype in PKHD1

PhenotypeMutation TypeaMutation Typeb
Amino Acid SubstitutionChain-TerminatingTotalAmino Acid SubstitutionChain-TerminatingTotal
a All mutations in the current study and (13) where the clinical phenotype was known; χ2 = 7.89, P = 0.005.
b All mutations in the current study and (13–15) where the clinical phenotype was known; χ2 = 19.65, P = 9 × 10−6.
c All mutations in the current study and (13–15) where both mutations in an individual as well as the clinical phenotype was known; χ2 = 9.08, P = 0.0026.
d All mutations in the current study and (13–15) where both mutations in an individual as well as the clinical phenotype was known; χ2 = 11.54, P = 0.003.
Nonperinatal
    Actual26632651984
    Expected20.811.23249.934.384
Perinatal
    Actual1819375261113
    Expected23.613.43767.145.9113
    Total44256911780197
PhenotypeMutation TypecCombination of Mutation Typed
Amino Acid SubstitutionChain-TerminatingTotalMissense/MissenseMissense/Chain-TerminationChain-Terminating/Chain-TerminatingTotal
Nonperinatal
    Actual3614501014024
    Expected27.622.4508.110.25.724
Perinatal
    Actual39478613151644
    Expected47.438.68614.918.810.344
    Total756113623291668