染色体15号101,736,583位的自发C转A(反向链的G转T)突变,导致了位置431的Alanine变为Aspartic acid的错义突变(p.A431D),(来源:J:208394, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count