CRISPR-targeting introduced the mutation responsible for the amino acid substitutions asparagine with aspartic acid at positions 46 and 122 (N46D, N122D) and tyrosine with alanine at positions 50 and 126 (Y50A, Y126A). (J:289452)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count