CRISPR/Cas9 technology generated an arginine to glutamine substitution at amino acid 636 (p.R636Q) in exon 9 which corresponds to the human R634Q mutation. (J:335083)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count