Exon 5通过一个gRNA(靶向GCCTGTAATACCACAGG)和一个ssODN(CTAGCCATGACCTCTTCTCTTGTCCCCTAGGAGAGCTGATGATGAGCCTCCTGGGCTATTACAGGCCTGAGCACTTACAGGGAGGTCGCAGCCCCAGCATGCATGAGG)来进行编辑,目的是将密码子659由色氨酸(TGG)替换为甘氨酸(GGC),这项操作被称为p.W659G(来自文献J:309976)。
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count