在chr5:89,775,351(GRCm38)的位置,一个C到T的突变导致了Valine(V)的密码子199被替换成了Isoleucine(I)的密码子(p.V199I,来自文献J:296898)。
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count