CRISPR/cas9 mediated recombination using a guide RNA (targeting AGACAACTCAGCTAACTTTGTGG in exon 5) resulted in a 2 bp deletion (c.504_505delCT), leading to a frameshift and premature stop codon (p.F169Cfs*21). (J:343418)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count