CRISPR-targeting resulted in a 96 bp insertion consisting of multiple duplication events from exon 22 encoding 32 amino acids (TEKKCTVSVETRLNQPQPDFTKTRLNQPQPDF) inserted between residues 968 and 969. (J:267525)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count