CRISPR/cas9 genome editing is used to delete exon 3 (2.5 kb). Sequencing identified 12 variants (2 SNPs and 10 indels), none of the variants hit any known sequences. (J:317164)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count