CRISPR-cas9 mediated recombination using a guide RNA (reverse orientation TCAAAGAAGTCCATCTGCCCAGG) introduced a CAG to CTC mutation, resulting in a Q119L mutation. (J:320567)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count