Sequence analysis showed that this allele carries an A-to-G base change at the 3' splice acceptor site of intron 4, eliminating the exon 5 splice acceptor site by changing it from ATG to TGG. (J:8332, J:8514, J:20245, J:42978, J:42979)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count