CRISPR-targeting of exon 26 introduced the mutation (TGC to CGC) responsible for the amino acid substitution of cysteine for arginine at position 694 (C694R). A silent C to A mutation inserted 7 bp upstream of the modified codon. (J:326817)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count