A 7 bp deletion (CCCGTGC) was created in the coding region of exon 1 using an sgRNA (targeting CCAGCTGGTAGTCGCGCACGG) with CRISPR/Cas9 technology. This creates a frameshift and premature stop codon (p.P78Afs*56). (J:274368)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count