自发突变导致了氨基酸位点由C变为A的替换(g.9:110455454C>A;p.Val55Phe;GRCm38),这指的是在基因序列的9号位置,110,455,454位由CG转换为AA,导致Val55变为Phe,这个变异位置来自J:311444。
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count