A single T-to-C (A-to-G on forward strand) transition at position 105,748,881 (GRCm38) in chromosome 7 alters exon 8 splice donor site from G-GT to G-GC. (J:201119, J:222308)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count