CRISPR-targeting of exon 3 introduced the mutation (AAG to CGG) responsible for the amino acid substitution lysine with arginine at position 50 (K50R). (J:335172)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count