CRISPR/Cas9 technology generated a TCC to GCT change resulting in a serine to alanine substitution at amino acid 441 (p.S441A). Two synonymous mutations were also introduced to avoid Cas9 cleavage. (J:334165)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count