这种自发突变发生在9号染色体9:75,140,731bp的位置(GRCm38),预测会对exon 7的剪接起始点产生重大影响,因为从GGT变为了GGC。(来源:J:216055, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count