CRISPR/Cas9 technology generated an AG to GC change at position 401-402 resulting in a glutamate to glycine substitution at amino acid 134 (p.E134G) in exon 5. (J:292926)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count