Exon 1 was targeted with an sgRNA (targeting CGCACCGGCACCATCCTGCTGG) using CRISPR/Cas9 technology, resulting in a 10 bp deletion (GCACCATCCT) that leads to a reading frame shift and premature stop codon (p.T25Wfs*6). (J:310542)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count