An A>G mutation at chr4:140,798,123 (GRm38) changes leucine codon 193 to a proline codon (p.L193P). (J:296898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count