A C>A mutation at chrX:134,693,042 (GRCm38) changes alanine codon 1233 to an aspartic acid codon (p.A1233D). (J:296898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count