CRISPR/Cas9 technology introduced a translation termination codon TGA to replace proline codon CCC at position 396 (NM_177073.6) in exon 10 (alternatively, p.496* in NP_001345843.1). (J:279949)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count