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