CRISPR-mediated mutagenesis introduced a two nucleotide change resulting in a non-synonymous substitution Glu610Gly (GAG to GGG) and a silent substitution in Glu613 (GAA to GAG). (J:219914)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count