The 5' UTR (in exon 1) and intron 2 were targeted with two sgRNAs using CRISPR/Cas9 technology, resulting in a deletion. (J:285108)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count