CRISPR-targeting produced a deletion mutation (chr4:g.129555212_129555213delTC) resulting in a frameshift and premature stop codon (p.Lys6Glyfs*9). (J:309727)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count