This spontaneous C-to-T transition (G-to-A on negative gene strand) at chromosome 7 position 142,385,619 bp (GRCm38) destroys the exon 2 splice acceptor site by changing it from CAG to CAA. (J:229377)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count