Alanine codon 155 (GCC) in exon 5 was changed to a stop codon (TGA) (p.A155*) using an sgRNA (targeting GGAAGATATGTAATCAGGCTCTT) and an ssODN template with CRISPR/Cas9 technology. (J:308301)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count