This chlorambucil-induced mutation is a G to A transition in the splice acceptor site of exon 3, and results in the skipping of exon 3 and a frameshift that introduces a premature stop codon in exon 4. (J:82707)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count