aNumber of the mutant residue was revised with the exclusion of transit peptide as compared with original literature.bThis deletion mutation affected RNA splicing and lead to a mRNA lacking exon 5.cTh
aInheritance manner: AR (autosomal recessive), AD (autosomal dominant) and XR (X-linked recessive).bSIFT classification: N.P (not predicted) and D (Damaging). Only the two novel variants were predicte
aNumber of the mutant residue was revised with the exclusion of transit peptide as compared with original literature. bThis deletion mutation affected RNA splicing and lead to a mRNA lacking exon 5. c
