CRISPR-targeting altered the point mutation (A to G) that produces the amino acid substitution of phenylalanine to leucine at position 1178 (F1178L). (J:310828)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count