这个18号染色体1,456,854,190位的自发A到T突变(在GRCm38建模)导致第四外显子产生了一个无义突变,将赖氨酸(528/793/803)替换为终止密码子(NP_536713: p.R528*, ENSMUSP00000067884: p.R793*, NP_001299834: p.R803*)。引用来源:J:207676, J:222308
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count