使用sgRNA(靶向TGACAATGATGGGTCTTCTGAGG)和ssODN模板(CTCCTCAGAGCTGAAACTCACCCAGGGAACCTAGAAACTCTCTGAGGCACCTCACCTGAAATGACAATGAGGGGTCTTCTGAGAATGTTGCTGAGGACAAATATGTGGATTTCTTCCAGGGAATTGTACTGAAGTCCACTTCGGGCTGCA)的CRISPR/Cas9技术,实现了第207位异亮氨酸密码子(ATC)被替换为亮氨酸(CTC),对应的基因变异为c.619A>C,p.I207L(来源:J:283545)。
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count