T to A substitution in exon 1 at 44th base following the first ATG (note that there are two ATG transcriptional start sites for this gene, resulting in three alternate amino acid sequences for exon 1) (J:123300)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count