This ENU-induced T>C point transition (c. 1080+2 T>C) in the exon 6 splice donor site that unmasks a cryptic splice site 120 bases downstream. (J:243745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count