A C>T mutation at chr4:138,221,673 (GRCm38) changes leucine codon16 to a phenylalanine codon (p.L16F). (J:296898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count