CRISPR/cas9 genome editing is used to create an amino acid substitution at position 619 (arginine to tryptophan, CGG to TGG, R619W) in exon 14 and a silent mutation (CTC to CTT) introduced at amino acid position 616 to create a BspE1 restriction site. (J:341570)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count