CRISPR/cas9 mediated recombination induced a T to C mutation at position 2911 (c.2911T>C) resulting in a phenylalanine 971 leucine missense mutation. (J:264758)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count