CRISPR/Cas9 mutagenesis induced a mutation at codon 193, altering from one encoding alanine to one encoding proline (p.Ala193Pro). (J:277123)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count