The mutation is a T to G transversion at codon 303, in exon 9, that is predicted to alter a leucine (CTC) to an arginine (CGC)(L303R). (J:159597)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count