A G>A mutation at chr1:59,847,167 (GRCm38) changes arginine codon 321 to a glutamine codon (p.R321Q). (J:296898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count