This mutation is a MusD family transposon insertion of 7486 nucleotides located approximately 10 kb upstream of exon A. (J:57316, J:127601, J:133888)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count