The mutation has been identified as a T to A transversion at genomic position 124816702 (ENSMUST00000024044), in the vicinity of the next-to-last exon. (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count