CRISPR/Cas9 technology generated an alanine to aspartate substitution at amino acid 4329 (p.A4329D) in exon 91. (J:292405)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count