CRISPR-targeting of exon 2 introduced the mutation for the amino acid substitution asparagine with alanine at position 175 and tyrosine for alanine at position 179 (N175A, Y179A). (J:331944)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count