CRISPR/Cas9 genome editing introduced a 14 nucleotide deletion such that Leucine822 is replaced by Histidine and followed by 6 amino acids and a termination codon in exon 5. The deletion causes a frameshift and is predicted to result in a truncated protein.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count