Glutamic acid codon 212 (GAA) was changed to lysine (AAA) (p.E212K) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. (J:324878)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count