CRISPR/cas9 mediated recombination created a A to T mutation at position 589 creating an arginine to stop mutation at amino acid 197. In addition there is a silent mutation (at position (J:327046)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count