CRISPR/cas9 mediated recombination created a 2 bp deletion at nucleotides 32 and 33 (c.32-33del; p.Leu12Arg fs*52) resulting in a frameshift and premature stop at position 52. (J:289328)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count