CRISPR/cas9 mediated recombination induced a C to T mutation at position 2914 (c.2914C>T) resulting in an arginine 972 tryptophan missense mutation. (J:264758)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count