A G>A mutation at chr7:120,135,179 (GRCm38) changes alanine codon 549 to a valine codon (p.A549V). (J:296898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count