CRISPR/Cas9 technology generated an isoleucine (ATC) codon to a threonine (ACA) codon at position 685 (I685T) in exon 21. An additional base change in the third position of the following glycine codon was introduced to eliminate the Cas9 PAM sequence to prevent retargeting. (J:300000)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count