A C>T mutation at chr7:102,973,309 (GRCm38) changes valine codon 228 to an isoleucine codon (p.V228I). (J:296898)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count