CRISPR/Cas9 technology generated a single nucleotide insertion of a C at position 134 in exon 3 (c.134insC) resulting in a frameshift and truncation of the protein product. The five highest scoring predictive offtargets were located in either non-coding regions or intronic segments. (J:259596)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count